NM_003359.4(UGDH):c.131C>T (p.Ala44Val) AND West syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 15, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003490002.2

Allele description [Variation Report for NM_003359.4(UGDH):c.131C>T (p.Ala44Val)]

NM_003359.4(UGDH):c.131C>T (p.Ala44Val)

Gene:

UGDH:UDP-glucose 6-dehydrogenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p14

Genomic location:

Preferred name:

NM_003359.4(UGDH):c.131C>T (p.Ala44Val)

Other names:

NP_003350.1:p.(Ala44Val)

HGVS:

NC_000004.12:g.39521382G>A
NM_001184700.2:c.131C>T
NM_001184701.2:c.-130+5901C>T
NM_003359.4:c.131C>TMANE SELECT
NP_001171629.1:p.Ala44Val
NP_003350.1:p.Ala44Val
NC_000004.11:g.39523002G>A
NM_003359.3:c.131C>T

Protein change:

A44V; ALA44VAL

Links:

OMIM: 603370.0001; dbSNP: rs749975104

NCBI 1000 Genomes Browser:

rs749975104

Molecular consequence:

NM_001184701.2:c.-130+5901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001184700.2:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003359.4:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: West syndrome
Identifiers:: MONDO: MONDO:0018097; MedGen: C0037769

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004232652	Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 15, 2023)	biparental	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004232652

Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 15, 2023)

biparental

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	biparental	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan, SCV004232652.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

Zygosity: Homozygous

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	biparental	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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